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1. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)

Author

Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, Gianpaolo De Filippo, Anne Bachelot, Clemence Delcour, Constance Beyler, Emilie Bois, Emmanuelle Bourrat, Emmanuel Bui Quoc, Nathalie Bourcigaux, Catherine Chaussain, Ariel Cohen, Martine Cohen-Solal, Sabrina Da Costa, Claire Dossier, Stephane Ederhy, Monique Elmaleh, Laurence Iserin, Hélène Lengliné, Armelle Poujol-Robert, Dominique Roulot, Jerome Viala, Frederique Albarel, Elise Bismuth, Valérie Bernard, Claire Bouvattier, Aude Brac, Patricia Bretones, Nathalie Chabbert-Buffet, Philippe Chanson, Regis Coutant, Marguerite de Warren, Béatrice Demaret, Lise Duranteau, Florence Eustache, Lydie Gautheret, Georges Gelwane, Claire Gourbesville, Mickaël Grynberg, Karinne Gueniche, Carina Jorgensen, Veronique Kerlan, Charlotte Lebrun, Christine Lefevre, Françoise Lorenzini, Sylvie Manouvrier, Catherine Pienkowski, Rachel Reynaud, Yves Reznik, Jean-Pierre Siffroi, Anne-Claude Tabet, Maithé Tauber, Vanessa Vautier, Igor Tauveron, Sebastien Wambre, Delphine Zenaty, Irène Netchine, Michel Polak, Philippe Touraine, Jean-Claude Carel, Sophie Christin-Maitre, and Juliane Léger

Subjects
Turner’s syndrome, Childhood, Adulthood, Diagnosis, Recommendation, Management, Medicine
Abstract

Abstract Turner syndrome (TS; ORPHA 881) is a rare condition in which all or part of one X chromosome is absent from some or all cells. It affects approximately one in every 1/2500 liveborn girls. The most frequently observed karyotypes are 45,X (40–50%) and the 45,X/46,XX mosaic karyotype (15–25%). Karyotypes with an X isochromosome (45,X/46,isoXq or 45,X/46,isoXp), a Y chromosome, X ring chromosome or deletions of the X chromosome are less frequent. The objective of the French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins) is to provide health professionals with information about the optimal management and care for patients, based on a critical literature review and multidisciplinary expert consensus. The PNDS, written by members of the French National Reference Center for Rare Growth and Developmental Endocrine disorders, is available from the French Health Authority website. Turner Syndrome is associated with several phenotypic conditions and a higher risk of comorbidity. The most frequently reported features are growth retardation with short adult stature and gonadal dysgenesis. TS may be associated with various congenital (heart and kidney) or acquired diseases (autoimmune thyroid disease, celiac disease, hearing loss, overweight/obesity, glucose intolerance/type 2 diabetes, dyslipidemia, cardiovascular complications and liver dysfunction). Most of the clinical traits of TS are due to the haploinsufficiency of various genes on the X chromosome, particularly those in the pseudoautosomal regions (PAR 1 and PAR 2), which normally escape the physiological process of X inactivation, although other regions may also be implicated. The management of patients with TS requires collaboration between several healthcare providers. The attending physician, in collaboration with the national care network, will ensure that the patient receives optimal care through regular follow-up and screening. The various elements of this PNDS are designed to provide such support.

Published
2022
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2. Focus on Liver Function Abnormalities in Patients With Turner Syndrome: Risk Factors and Evaluation of Fibrosis Risk

Author

Nathalie Bourcigaux, Emma Dubost, Jean-Claude Buzzi, Bruno Donadille, Christophe Corpechot, Armelle Poujol-Robert, and Sophie Christin-Maitre

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Biochemistry
Abstract

ContextLiver function abnormalities (LFAs) have been described in patients with Turner syndrome (TS). Although a high risk of cirrhosis has been reported, there is a need to assess the severity of liver damage in a large cohort of adult patients with TS.ObjectiveEvaluate the types of LFAs and their respective prevalence, search for their risk factors, and evaluate the severity of liver impairment by using a noninvasive fibrosis marker.MethodsThis was a monocentric retrospective cross-sectional study. Data were collected during a day hospital visit. The main outcome measures were liver enzymes (alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transferase, alkaline phosphatase), FIB-4 score, liver ultrasound imaging, elastography, and liver biopsies, when available.Results264 patients with TS were evaluated at a mean age of 31.15 ± 11.48 years. The overall prevalence of LFAs was 42.8%. The risk factors were age, body mass index, insulin resistance, and an X isochromosome (Xq). The mean FIB-4 sore of the entire cohort was 0.67 ± 0.41. Less than 10% of patients were at risk of developing fibrosis. Cirrhosis was observed in 2/19 liver biopsies. There was no significant difference in the prevalence of LFAs between premenopausal patients with natural cycles and those receiving hormone replacement therapy (P = .063). A multivariate analysis adjusted for age showed no statistically significant correlation between hormone replacement therapy and abnormal gamma-glutamyl transferase levels (P = .12).ConclusionPatients with TS have a high prevalence of LFA. However, 10% are at high risk of developing fibrosis. The FIB-4 score is useful and should be part of the routine screening strategy. Longitudinal studies and better interactions with hepatologists should improve our knowledge of liver disease in patients with TS.

Published
2023
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4. Author response for 'Influenza vaccination and prognosis of COVID ‐19 in hospitalized patients with diabetes: Results from the CORONADO study'

Author

null A Diallo, null M Pichelin, null M Wargny, null P Gourdy, null JB Bonnet, null S Hadjadj, null B Cariou, null A Sultan, null F Galtier, null Matthieu Wargny, null Pascale Mahot, null Bertrand Cariou, null Samy Hadjadj, null Matthieu Pichelin, null Anne‐Laure Fournier‐Guilloux, null Nicolas Mauduit, null Edith Bigot‐Corbel, null Anne‐Sophie Boureau, null Laure Dekcer, null Audrey Ernould, null Claire Primot, null Anne Seguin, null Marielle Joliveau, null Sonia Pouvreau, null Chloé FOURNIER, null Jeremy Thureau, null Edith Fonteneau, null Pamela Hublain, null Chu Nantes, null Carole Agasse, null Mathilde DE Kergaradec, null Vincent Minville, null Fanny Vardon‐Bounes, null Guillaume Martin‐Blondel, null Pierre Gourdy, null Blandine Tramunt, null Marie‐Christine Turnin, null Hélène Hanaire, null Jean‐Michel Mansuy, null Didier Fabre, null Marie‐Blanche Arhainx, null Laurent Cazals, null Laure Combes, null Emmanuelle Lami, null Mallory Cianferani, null Bruno Megarbane, null Pierre Leroy, null Jean‐François Gautier, null Tiphaine Vidal‐Trecan, null Jean‐Pierre Riveline, null Jean‐Louis Laplanche, null Stéphane Mouly, null Louis Potier, null Ronan Roussel, null Malak Taher, null Yawa Abouleka, null Fetta Yaker, null Aurelie Carlier, null Anne Boutten, null Marilyne Hallot‐Feron, null Fadila Mourah, null Charles Thivolet, null Emilie Blond, null Muriel Rolland, null Josep Verdecho Mendez, null Marine Alexandre, null Julien Pottecher, null Emilie Richer, null Laurent Meyer, null Florina Luca, null Jean‐Marc Lessinger, null Thibault Bahougne, null Bruno Guerci, null Lisa Ludwig, null Siham Benzirar, null Catherine Malaplate, null Thierry Matton, null Julien Poissy, null Karine Faure, null Pierre Fontaine, null Florence Baudoux, null Anne Vambergue, null Jean David Pekar, null Marc Lambert, null Cécile Yelnik, null Amélie Bruandet, null Laurent Petit, null Didier Neau, null Vincent Rigalleau, null Annie Berard, null Amandine Galioot, null Remy Coudroy, null Arnaud Thille, null René Robert, null France Roblot‐Cazenave, null Blandine Rammaert, null Pierre Jean Saulnier, null Xavier Piguel, null Nesrine Benhenda, null Camille Husson, null Celine Olivier, null Florence Torremocha, null Mathilde Fraty, null Marie Flamen d'assigny, null Aurelie Miot, null Valentin Bossard, null Kada Klouche, null Alain Makinson, null Ariane Sultan, null Jean‐Baptiste Bonnet, null Vincent Foulongne, null Florence Galtier, null Cécile Aubron, null Séverine Ansart, null Véronique Kerlan, null Pascale Quiniou, null Jean‐Luc Carre, null Stéphane Quesnot, null Bruno Laviolle, null Carole Schwebel, null Olivier Epaulard, null Pierre‐Yves Benhamou, null Cécile Betry, null Anne‐Laure Borel, null Sandrine Lablanche, null Dorra Guergour, null Catherine Duclos, null Emmanuel Cosson, null Erwan Guyot, null Aurore Deniau, null Phucthutrang Nguyen, null Yves Reznik, null Michael Joubert, null Stéphane Allouche, null Lydia Guittet, null Steven Grange, null Manuel Etienne, null Gaëtan Prévost, null Valéry Brunel, null Jean‐Christophe Lagier, null Didier Raoult, null Anne Dutour, null Bénédicte Gaborit, null Sandrine Boulllu, null Patrice Darmon, null Adèle Lasbleiz, null Mathieu Cerino, null Fanny Romain, null Marie Houssays, null Jean Pierre Quenot, null Lionel Piroth, null Bruno Vergès, null Laurence Duvillard, null Bernard Bonnotte, null Alain Mercat, null Vincent Dubee, null Ingrid Allix, null Patrice Rodien, null Robin Dhersin, null Maylis Lebeault, null Wojciech Trzepizur, null Jocelyne Loison, null Antoine Brangier, null Pierre Asfar, null Pascal Reynier, null Françoise Larcher, null Françoise Joubaud, null Marie‐Rita Andreu, null Geoffrey Urbanski, null Laurent Hubert, null Cedric Annweiler, null Jean Dellamonica, null Johan Courjon, null Nicolas Chevalier, null Giulia Chinetti, null Magda Chafai, null Bruno Mourvillier, null Firouze Bani‐Sadr, null Sarra Barraud, null Brigitte Delemer, null Philippe Gillery, null Pascale Labedade, null Amélie Chabrol, null Alfred Penfornis, null Catherine Petit, null Coralie Amadou, null Maxime Adler, null Clément Dubost, null Pierre‐Louis Conan, null Lyse Bordier, null Franck Ceppa, null Cyril Garcia, null Mathilde Sollier, null Olivier Dupuy, null Sophie Laplance, null Olivier Billuart, null Marie Joseph Aroulanda, null Frédérique Olivier, null Florence Ayon, null Nathalie Wilhelm, null Loic Epelboin, null Nadia Sabbah, null Aurelie Charpin, null Pierre Squara, null Olivier Belliard, null Claude Dubois, null Michel Marre, null Johann Auchabie, null Roxane Courtois, null Thierry Duriez, null Tiphaine Mergey, null Laura Vallee, null Laetitia Seguin, null Abdallah Al‐Salameh, null Jean‐Philippe Lanoix, null Sandrine Soriot‐Thomas, null Anne‐Marie Bourgeois‐Descouls, null Rachel Desailloud, null Natacha Germain, null Bogdan Galusca, null Gwenaelle Belleton, null Nesrine Marouani, null Delia Palaghiu, null Amira Hammour, null Fernando Berdaguer, null Thimothée Klopfenstein, null Hajer Zayet, null Patrice Winiszewski, null Marie Zanusso, null Pauline Garnier, null Ingrid Julier, null Karim Hamzaoui, null Sophie Marty‐Gres, null Tarik Sadki, null Lucile Cadot, null Jean‐Louis Dubost, null Céline Gonfroy, null Catherine Campinos, null Pascale Martres, null Marie Pierre Coulhon, null Nicolas Allou, null Marwa Bachir, null Stella Hoang, null Candice Kembellec, null Olivia Suply, null Fatima Kharcha, null Anne‐Claire Devouge, null Anna Flaus‐Furmanuk, null Isabelle Madeline, null Vincent Ehinger, null Sophie Bastard, null Loic Raffray, null Frederic Renou, null Aude Bojarski, null Caroline Paul, null Karine Borsu, null Angelique Gorlin, null Servane Bernardo, null Carole Truong Ut, null Stephane Renaud, null Antoine Vignoles, null Emilie Foch, null Laurie Masse, null Hubert Grand, null Helene Ferrand, null Christelle Raffaitin‐Cardin, null Hadjer Zellagui, null Celine Castang‐Brachet, null Frederique Boury, null Ana Alvarez Tena, null Isabelle Moura, null Pierre Kalfon, null Juliana Darasteanu, null Arnaud Monier, null Pascal Foucault, null Alexandra Depuille, null Stéphanie Laugier‐Robiolle, null Patrick Caneiro, null Maud Basso, null Etienne Larger, null Samir Bouam, null Wahiba Benzenati, null Leila Ait Bachir, null Camille Cussac Pillegand, null Marc Vasse, null Christophe Michard, null Nathanaëlle Montanier, null Luc Millot, null Françoise Crepet, null Danielle Ratsimba, null Kevin Bouiller, null Sophie Borot, null Isabelle Bruckert, null Annie Clergeot, null Franck Schillo, null Dorothée Vignes, null Muriel Bourgeon‐Ghittori, null Hamoud Lachgar, null Claire Lambert DE Cursay, null Stéphane Levante, null Jean Charles Auregan, null Antoine Merlet, null Cécile Zaragoza, null Gwénaëlle Arnault, null Anne‐Gaëlle Loupp, null Olivier Lesieur, null Mariam Roncato‐Saberan, null Didier Gouet, null Romain Lemarie, null Hong_an Allano, null Emmanuel Vivier, null Caroline Pariset, null Cédric Luyton, null Lucien Marchand, null Fanny Doroszewski, null Matthieu Pecquet, null Laurent Perard, null Sylvie Vuillermoz‐Blas, null Nicolas Kacki, null Patricia Charrier, null Amélie Ducet‐Boiffard, null Françoise Desroys Roure, null Olivier Bourron, null Dominique Bonnefont‐Rousselot, null Suzanne Laroche, null Franck Phan, null Agnès Hartemann, null Cyrielle Caussy, null Emmanuel Disse, null Claude Guerin, null Thomas Perpoint, null Philippe Moulin, null Régine Cartier, null Geoffroy Hariri, null Dorothée Chopin, null Camille Vatier, null Nathalie Bourcigaux, null Emmanuelle Chaigneau, null Sophie Christin‐Maitre, null Bruno Donadille, null Bruno Feve, null Sophie Lamothe, null Julie Sarfati, null Pascal Pernet, null Anne Chambon, null Delphine Demarsy, null Hugo Campagne, null Françoise Latil‐Plat, null Monica Berne, null Marilyne Grinand, null Marion Touzet, null Aydrey Zabulon, null Jocelyne Craspag, null Catherine Ledoux, null Cedric Contaret, null Blandine Janand‐Delenne, null Anaïs Giraud, null Marie Lou Lacrimini, null Joëlle Arrivie, null Deborah Ancelle, null Carine Guillois, null Bénédicte Fremy, null Amina Chaalal, null Gaëlle Barrande, null Anne Dorange, null Eglantine Rouanet, null Dominique Seret‐Begue, null Audrey Saoud, null Anne‐Marie Guedj, null Nathalie Bedos, null Fritz‐Line Velayoudom, null Marie Dumas, null Benoite Gonda, null Christine Coffin, null Stéphanie Gibiat, null Myriam Lungo, null Chantal Bully, null Pierre Serusclat, null Stella Bully, null Patricia Carre, null Jean‐Philippe Leberre, null Carlos Elkhoury, null Marine Thieux, null Laetitia Paradisi‐Prieur, and null CORONADO investigators

Subjects
Vaccination, Pediatrics, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), business.industry, Hospitalized patients, Diabetes mellitus, Medicine, business, medicine.disease
Published
2021
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5. Monitoring gestational diabetes mellitus patients with the telemedicine application MyDiabby decreases the rate of foetal macrosomia

Author

Guillaume Girard, Pr Sophie Christin-Maitre, Celine De Carne, Isabelle Gueguen, Jean-Claude Buzzi, Camille Vatier, Tiphaine Meykiechel, and Nathalie Bourcigaux

Subjects
Telemedicine, medicine.medical_specialty, Obstetrics, business.industry, Endocrinology, Diabetes and Metabolism, Pregnancy Outcome, General Medicine, medicine.disease, Fetal Macrosomia, Gestational diabetes, Foetal macrosomia, Diabetes, Gestational, Endocrinology, Pregnancy, Internal Medicine, medicine, Humans, Female, business
Published
2021

7. Hypoglycemia and Glycemic Control With Glyburide in Women With Gestational Diabetes and Genetic Variants of Cytochrome P450 2C9 and/or OATP1B3

Author

Laurent Mandelbrot, Hanane Bouchghoul, Céline Verstuyft, Laurent Becquemont, Alexandra Letourneau, Jean Bouyer, Marie-Victoire Senat, Nathalie Bourcigaux, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Hôpital Louis Mourier - AP-HP [Colombes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP - Hôpital Antoine Béclère [Clamart], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Génétique Moléculaire Pharmacogénétique et Hormonologie [CHU Bicêtre], British Society of Criminology, BSC: BB-0033-00089 Ministère des Affaires Sociales et de la Santé, This study was funded by a research grant from the French Ministry of Health and was sponsored by Paris Public Hospitals (AP-HP, Assistance Publique-H?pitaux de Paris), via its Clinical Research Department. The authors thank David Marsh, BSc (Biophysics, First Class Honours, University of Leeds, UK) PhD (Biophysics, King?s College London, UK), freelance copyeditor/proofreader, for language editing. We thank Elodie Dupuis and Solene Fabre for their technical assistance for the biobank. The biobank INDAO is stored in CRB Paris South (BRIF: BB-0033-00089)., and This study was funded by a research grant from the French Ministry of Health and was sponsored by Paris Public Hospitals (AP‐HP, Assistance Publique‐Hôpitaux de Paris), via its Clinical Research Department.

Subjects
Adult, medicine.medical_specialty, Genotype, Glycemic Control, Hypoglycemia, 030226 pharmacology & pharmacy, 03 medical and health sciences, Solute Carrier Organic Anion Transporter Family Member 1B3, 0302 clinical medicine, Pharmacokinetics, Pregnancy, Internal medicine, Glyburide, medicine, Humans, Hypoglycemic Agents, Pharmacology (medical), Allele, CYP2C9, Glycemic, Cytochrome P-450 CYP2C9, Pharmacology, Polymorphism, Genetic, Dose-Response Relationship, Drug, business.industry, Genetic Variation, [SDV.SP]Life Sciences [q-bio]/Pharmaceutical sciences, medicine.disease, 3. Good health, Gestational diabetes, Diabetes, Gestational, Endocrinology, 030220 oncology & carcinogenesis, Female, business
Abstract

International audience; Glyburide is mainly metabolized by the cytochrome P450 2C9 (CYP2C9) enzyme and enters the liver via the transporter OATP1B3. The variants OATP1B3*4 (699 G>A; rs7311358) and CYP2C9*2 and *3 are known to have a significant influence on the hepatic uptake and metabolism of glyburide, with lower clearance than in the wild type. In an ancillary study of the INDAO trial, we selected 117 pregnant women with gestational diabetes treated by glyburide and assessed the role of the combined CYP2C9 and OATP1B3 genetic polymorphisms in hypoglycemia and glycemic control. Three groups were constituted: (1) the wild-type genotype group (wild-type allele genotype for both CYP2C9*1 and OATP1B3*1 (699G)), (2) the intermediate group (carriers of CYP2C9*2 allele or OATP1B3*4 (699G>A) heterozygous), and (3) the variant group (carriers of CYP2C9*3 allele and/or OATP1B3*4 (699G>A) homozygous variant). We found that the risk of hypoglycemia was significantly higher in the variant genotype at the second week of treatment: 20.0% (4/20) vs. 8.1% (3/37) in the intermediate group and 4.1% (2/49) in the wild-type genotype group (P = 0.03). The last daily dose of glyburide during pregnancy was lower for patients in the variant genotype group: 4.7 mg (SD 3.5) vs. 8.7 mg (SD 5.7) in the wild-type group and 5.7 mg (SD 3.7) in the intermediate group (P

Published
2021
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8. Prevalence and progression of aortic dilatation in adult patients with Turner syndrome: a cohort study

Author

Clément Cholet, Nathalie Bourcigaux, Alexandra Rousseau, Laurence Iserin, Mariana Nedelcu, Sophie Christin-Maitre, B. Donadille, Sophie Tuffet, L Monnier-Cholley, Service d'Endocrinologie, diabétologie et endocrinologie de la reproduction [CHU Saint-Antoine], CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Service de pharmacologie - Dosage de médicaments [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Radiologie [CHU Saint-Antoine], Hôpital Européen Georges Pompidou [APHP] (HEGP), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)

Subjects
Adult, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Aortic Diseases, Heart Valve Diseases, Turner Syndrome, 030209 endocrinology & metabolism, Thyroiditis, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Bicuspid aortic valve, Bicuspid Aortic Valve Disease, Internal medicine, medicine.artery, Turner syndrome, Ascending aorta, Prevalence, Medicine, Humans, Aorta, Aortic dissection, Body surface area, business.industry, Hazard ratio, General Medicine, medicine.disease, 030220 oncology & carcinogenesis, Aortic Valve, Cohort, Cardiology, Disease Progression, cardiovascular system, Female, France, business, Dilatation, Pathologic
Abstract

Objective: Turner syndrome (TS) is a rare disorder affecting 1/2500 female newborn. Aortic dilatation (AD) and aortic dissection represent a major concern in TS. The aims of our study were to describe the aortic root growth, potential aortic dilatation (AD) risk factors and cardiovascular outcomes in a cohort of patients with TS. Methods: Among 204 adult patients included, 197 were studied using a standardized 1.5 Tesla MRI protocol. AD was defined as an aortic diameter ≥20 mm/m2 at the Valsalva sinuses and/or at the ascending aorta, when indexed to body surface area. Results: At baseline, AD was present in 81/197 (41.1%) and 32/197 (16.2%) of patients, at the levels of Valsalva and ascending aorta, respectively. The aortic Valsalva diameter was larger in patients treated for thyroiditis (P < 0.001). Potential risk factors of AD were aging (P < 0.001) and the presence of bicuspid aortic valve (BAV) (P = 0.002). The hazard ratio (HR) of AD occurrence in the presence of BAV was 2.2 (95% CI: 1.33–3.71). After a median follow-up period of 5.1 years (n = 143), AD was present in 58/143 (40.6%) and 25/143 (17.5%) of patients at the levels of Valsalva and ascending aorta, respectively. The median aortic growth of the Valsalva sinuses remained stable. At the ascending aorta, it increased by 0.14 ± 0.61 mm/year. Only one aortic-related death was observed. Conclusion: AD is common in adult patients with TS. However, our results are rather reassuring, as the median aortic diameters remained stable after 5.1 years and few aortic events were observed.

Published
2020
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9. Pharmacologie pratique des estrogènes et des progestatifs utilisés en contraception

Author

null NATHALIE BOURCIGAUX and null LUCILE MARAVAL

Abstract

Depuis la découverte de la progestérone et de l’estradiol dans les années 1930, vingt à trente années se sontécoulées avant de la mise en évidence des propriétéscontraceptives des progestatifs et la commercialisationde la première pilule estroprogestative « Enovid ».Les progestatifs de synthèse dérivent soit de la progestérone, soit de la testostérone ou de la spironolactone(drospirénone). Ces deux derniers sont utilisés encontraception seuls ou en association à un estrogènede synthèse, l’ethinyl estradiol (EE), plus rarementavec du valérate d’estradiol ou du 17β-estradiol. Cesont principalement les progestatifs qui confèrentla propriété contraceptive des pilules estroprogestatives et ils sont responsables de la classification« historique » des pilules en générations 1, 2, 3et autres. Parallèlement, la concentration de l’EEcontenue dans les pilules a nettement diminué du faitdu risque thromboembolique. Ainsi, de nombreusescombinaisons estroprogestatives ont été mises aupoint pour améliorer l’efficacité et la tolérance dela contraception.

Published
2020
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10. Treatment of aggressive pituitary tumours and carcinomas: Results of a European Society of Endocrinology (ESE) survey 2016

Author

Ann McCormack, Olaf M Dekkers, Stephan Petersenn, Vera Popovic, Jacqueline Trouillas, Gerald Raverot, Pia Burman, Alicia Hubalewska-Dydejezky, Guillaume Assie, Leon Bach, Marie Batisse-Lignier, Katarina Berinder, Ismene Bilbao, Fabrice Bonnet, Damien Bresson, Oscar Bruno, Mariana Campdera, Philippe Caron, Frederic Castinetti, Filippo Ceccato, Olivier Chabre, Philippe Chanson, Emanuel Christ, Lucie Cloix, Christine Cortet, Lise Criniere, Guillem Cuatrecasas, Miguel Debono, Brigitte Delemer, Rachel Desailloud, Timo Deutschbein, Tina Dusek, Britt Eden Engström, Marco Faustini-Fustini, Schillo Franck, Cyril Garcia, Yona Greenman, Susana Mallea Gil, Giovanna Mantovani, Mark Gurnell, Anthony Heaney, David Henley, Claire Higham, EW Hoving, Charlotte Höybye, Atsuhiro Ichihara, Marie-Lise Jaffrain-Rea, Gudmundur Johannsson, Jens Otto Lunde Jorgensen, Christel Jublanc, Jan Komor, Marta Korbonits, Ivana Kralievic, Delphine Larrieu-Ciron, Helene Lasolle, Edward Laws, Marco Losa, Dominique Maiter, Claudio Marcocci, Olinda Castro Marques, Tania Longo Mazzuco, Alexander Micko, Nathalie Bourcigaux, Sebastian Neggers, John Newell-Price, Belén Perez-Berida, Leon D Ortiz, Oskar Ragnarsson, Marta Ragonese, Martin Reincke, Jean-Louis Sadoul, Akira Shimatsu, Luis V Syro, Luc Taillandier, Miklos Toth, Takeshi Usui, Zauzsanna Valkusz, Greisa Vila, Ben Whitelaw, Maria Chiara Zatelli, Mccormack, Ann, Dekkers, Olaf M, Petersenn, Stephan, Popovic, Vera, Trouillas, Jacqueline, Raverot, Gerald, Burman, Pia, Harrison, Alex, Hubalewska-Dydejezky, Alicia, Assie, Guillaume, Bach, Leon, Batisse-Lignier, Marie, Berinder, Katarina, Bilbao, Ismene, Bonnet, Fabrice, Bresson, Damien, Bruno, Oscar, Campdera, Mariana, Caron, Philippe, Castinetti, Frederic, Ceccato, Filippo, Chabre, Olivier, Chanson, Philippe, Christ, Emanuel, Cloix, Lucie, Cortet, Christine, Criniere, Lise, Cuatrecasas, Guillem, Debono, Miguel, Delemer, Brigitte, Desailloud, Rachel, Deutschbein, Timo, Dusek, Tina, Engström, Britt Eden, Faustini-Fustini, Marco, Franck, Schillo, Garcia, Cyril, Greenman, Yona, Gil, Susana Mallea, Mantovani, Giovanna, Gurnell, Mark, Heaney, Anthony, Henley, David, Higham, Claire, Hoving, E. W., Höybye, Charlotte, Ichihara, Atsuhiro, Jaffrain-Rea, Marie-Lise, Johannsson, Gudmundur, Jorgensen, Jens Otto Lunde, Jublanc, Christel, Komor, Jan, Korbonits, Marta, Kralievic, Ivana, Larrieu-Ciron, Delphine, Lasolle, Helene, Laws, Edward, Losa, Marco, Maiter, Dominique, Marcocci, Claudio, Marques, Olinda Castro, Mazzuco, Tania Longo, Micko, Alexander, Bourcigaux, Nathalie, Neggers, Sebastian, Newell-Price, John, Perez-Berida, Belén, Ortiz, Leon D, Ragnarsson, Oskar, Ragonese, Marta, Reincke, Martin, Sadoul, Jean-Loui, Shimatsu, Akira, Syro, Luis V, Taillandier, Luc, Toth, Miklo, Usui, Takeshi, Valkusz, Zauzsanna, Vila, Greisa, Whitelaw, Ben, and Zatelli, Maria Chiara

Subjects
Male, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Medizin, pituitary carcinoma, Pituitary neoplasm, Neurosurgical Procedure, Neurosurgical Procedures, 0302 clinical medicine, Endocrinology, Pituitary tumour, aggressive pituitary tumour, pituitary carcinoma, temozolomide, Surveys and Questionnaires, Antineoplastic Combined Chemotherapy Protocols, Surveys and Questionnaire, Pituitary Neoplasm, Adenoma, Adolescent, Adult, Aged, Antineoplastic Agents, Alkylating, Bevacizumab, Capecitabine, Carcinoma, Carmustine, Child, Child, Preschool, DNA Modification Methylases, DNA Repair Enzymes, Dacarbazine, Europe, Female, Humans, Ki-67 Antigen, Middle Aged, Neoplasm Invasiveness, Pituitary Neoplasms, Societies, Medical, Temozolomide, Thalidomide, Tumor Suppressor Proteins, Young Adult, Cranial Irradiation, DNA Repair Enzyme, General Medicine, Alkylating, aggressive pituitary tumour, 3. Good health, Diabetes and Metabolism, 030220 oncology & carcinogenesis, Human, medicine.drug, medicine.medical_specialty, 030209 endocrinology & metabolism, Antineoplastic Agents, 03 medical and health sciences, Internal medicine, Medical, DNA Modification Methylase, medicine, Preschool, Neoplasm Invasivene, Tumor Suppressor Protein, Chemotherapy, Antineoplastic Combined Chemotherapy Protocol, Pituitary tumour, business.industry, medicine.disease, Concomitant, business, Societies, Progressive disease
Abstract

Objective To collect outcome data in a large cohort of patients with aggressive pituitary tumours (APT)/carcinomas (PC) and specifically report effects of temozolomide (TMZ) treatment. Design Electronic survey to ESE members Dec 2015–Nov 2016. Results Reports on 166 patients (40 PC, 125 APT, 1 unclassified) were obtained. Median age at diagnosis was 43 (range 4–79) years. 69% of the tumours were clinically functioning, and the most frequent immunohistochemical subtype were corticotroph tumours (45%). Ki-67 index did not distinguish APT from PC, median 7% and 10% respectively. TMZ was first-line chemotherapy in 157 patients. At the end of the treatment (median 9 cycles), radiological evaluation showed complete response (CR) in 6%, partial response (PR) in 31%, stable disease (SD) in 33% and progressive disease in 30%. Response was more frequent in patients receiving concomitant radiotherapy and TMZ. CR was seen only in patients with low MGMT expression. Clinically functioning tumours were more likely to respond than non-functioning tumours, independent of MGMT status. Of patients with CR, PR and SD, 25, 40 and 48% respectively progressed after a median of 12-month follow-up. Other oncological drugs given as primary treatment and to TMZ failures resulted in PR in 20%. Conclusion This survey confirms that TMZ is established as first-line chemotherapeutic treatment of APT/PC. Clinically functioning tumours, low MGMT and concurrent radiotherapy were associated with a better response. The limited long-term effect of TMZ and the poor efficacy of other drugs highlight the need to identify additional effective therapies.

Published
2018

11. Effect of Glyburide vs Subcutaneous Insulin on Perinatal Complications Among Women With Gestational Diabetes A Randomized Clinical Trial

Author

Philippe Deruelle, Jean Bouyer, Florence Bretelle, Mathieu Morin, Marie-Victoire Senat, Virginie Castera, Magali Coustols-Valat, Loïc Sentilhes, Helene Affres, Eric Verspyck, Alexandra Letourneau, Julie Fort Jacquier, Raoul Desbriere, Gael Beucher, Isabelle Héron, Anne Rod, Celine De Carne, Helene Legardeur, Sandrine Laboureau, Catherine Rolland, Emmanuel Simon, Nathalie Bourcigaux, Marie Cazaubiel, François Maillot, Groupe de Recherche en Obstétrique et Gynécologie, Delphine Mitanchez, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Gynécologie Obstétrique [AP-HP Hôpital Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Université Paris-Sud - Paris 11 - Faculté de médecine (UP11 UFR Médecine), Université Paris-Sud - Paris 11 (UP11), Service d'Obstétrique et Gynécologique [Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Gynépole, Aix Marseille Université (AMU)- Hôpital Nord [CHU - APHM], Microbes évolution phylogénie et infections (MEPHI), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Université Grenoble Alpes - UFR Pharmacie (UGA UFRP), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Service Gynécologie [CHU Toulouse], Pôle Femme-Mère-Couple [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Gynécologie - Obstétrique [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de Gynécologie-Obstétrique et Médecine de la Reproduction [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Service de gynécologie et obstétrique [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU), Service de gynécologie-obstétrique [CHU Toulouse], CHU Toulouse [Toulouse], Université de Rouen Normandie (UNIROUEN), and Normandie Université (NU)-Normandie Université (NU)-CHU Rouen

Subjects
Blood Glucose, medicine.medical_specialty, medicine.medical_treatment, 030209 endocrinology & metabolism, Hypoglycemia, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Pregnancy, law, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Diabetes mellitus, Internal medicine, Glyburide, Fetal macrosomia, medicine, Humans, Hypoglycemic Agents, Insulin, 030212 general & internal medicine, Original Investigation, 030219 obstetrics & reproductive medicine, business.industry, Perinatal complications, Neonatal hypoglycemia, Pregnancy Outcome, Obstetrics and Gynecology, General Medicine, medicine.disease, 3. Good health, Subcutaneous insulin, Gestational diabetes, Diabetes, Gestational, Female, business
Abstract

Importance Randomized trials have not focused on neonatal complications of glyburide for women with gestational diabetes. Objective To compare oral glyburide vs subcutaneous insulin in prevention of perinatal complications in newborns of women with gestational diabetes. Design, Settings, and Participants The Insulin Daonil trial (INDAO), a multicenter noninferiority randomized trial conducted between May 2012 and November 2016 (end of participant follow-up) in 13 tertiary care university hospitals in France including 914 women with singleton pregnancies and gestational diabetes diagnosed between 24 and 34 weeks of gestation. Interventions Women who required pharmacologic treatment after 10 days of dietary intervention were randomly assigned to receive glyburide (n=460) or insulin (n=454). The starting dosage for glyburide was 2.5 mg orally once per day and could be increased if necessary 4 days later by 2.5 mg and thereafter by 5 mg every 4 days in 2 morning and evening doses, up to a maximum of 20 mg/d. The starting dosage for insulin was 4 IU to 20 IU given subcutaneously 1 to 4 times per day as necessary and increased according to self-measured blood glucose concentrations. Main Outcomes and Measures The primary outcome was a composite criterion including macrosomia, neonatal hypoglycemia, and hyperbilirubinemia. The noninferiority margin was set at 7% based on a 1-sided 97.5% confidence interval. Results Among the 914 patients who were randomized (mean age, 32.8 [SD, 5.2] years), 98% completed the trial. In a per-protocol analysis, 367 and 442 women and their neonates were analyzed in the glyburide and insulin groups, respectively. The frequency of the primary outcome was 27.6% in the glyburide group and 23.4% in the insulin group, a difference of 4.2% (1-sided 97.5% CI, −∞ to 10.5%; P =.19). Conclusion and Relevance This study of women with gestational diabetes failed to show that use of glyburide compared with subcutaneous insulin does not result in a greater frequency of perinatal complications. These findings do not justify the use of glyburide as a first-line treatment. Trial Registration clinicaltrials.gov Identifier:NCT01731431

Published
2018
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12. [Premature ovarian failures]

Author

Léopoldine, Bricaire, Emmanuelle, Laroche, Nathalie, Bourcigaux, Bruno, Donadille, and Sophie, Christin-Maitre

Subjects
Chromosomes, Human, X, Fragile X Syndrome, Humans, Turner Syndrome, Female, Primary Ovarian Insufficiency, Sex Chromosome Aberrations, Autoimmune Diseases
Abstract

Premature ovarian failure (POF) is clinically suspected by amenorrhea and confirmed by an elevated FSH serum level above 40 mUI/L (even 20 mUI/L) twice, in a woman before the age of 40. Prevalence of POF is between 1 to 2% in women. In 90% of cases, no aetiology is identified. Obvious causes are chemotherapy, pelvic radiotherapy, ovarian surgery and diethylstilbestrol exposure in utero. A karyotype should be performed as Turner Syndrome is the most frequent genetic cause of POF. Some X abnormalities such as X deletion or X autosome translocation can be found. FMR1 pre-mutation (fragile X syndrome) should be searched for, even though no cases of mental retardation are known, in the family. Other genetic abnormalities can be suggested by associated symptoms (i.e.: FOXL2, SF1 mutations). Auto-immune aetiology can be suspected if other auto-immune features are present, however, there are no reliable auto-antibodies to confirm auto-immunity in POF. Treatment of POF is based on hormonal replacement therapy in order to avoid estrogen deficiency, suppress vasomotor symptoms and avoid bone loss as well as cardiovascular risk. Estrogens should be associated with progesterone or a progestin, at least up to the age of 51. Patients with POF should be informed that spontaneous pregnancies may occur (in 5% of cases). In case of desire of pregnancy, the patient should be oriented to a specialized unit for in vitro fertilization with oocyte donation. Psychological support is essential and should be part of the treatment. POF is associated with an increased risk of emotional distress and depression. No preventive treatment of POF is available so far.

Published
2012

13. Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure.

Author

Gérard Tachdjian, Azzedine Aboura, Marie-France Portnoï, Maud Pasquier, Nathalie Bourcigaux, Tabassome Simon, Ghislaine Rousseau, Lina Finkel, Moncef Benkhalifa, and Sophie Christin-Maitre

Subjects
PROTECTIVE coloration (Biology), FLUORESCENCE microscopy, FLUORESCENCE in situ hybridization, IN situ hybridization
Abstract

BACKGROUND Premature ovarian failure (POF) is defined as amenorrhoea for >6 months, occurring before the age of 40, with an FSH serum level in the menopausal range. Although Xq deletions have been known for a long time to be associated with POF, the mechanisms involved in X deletions in order to explain ovarian failure remain unknown. In order to look for potentially cryptic chromosomal imbalance, we used high-resolution genomic analysis to characterize X chromosome deletions associated with POF. METHODS Three patients with POF presenting terminal Xq deletions detected by conventional cytogenetics were included in the study. Genome wide microarray comparative genomic hybridization (CGH) at a resolution of 1 Mb and fluorescence in situ hybridization (FISH) was performed. RESULTS Microarray CGH and FISH studies characterized the three deletions as del(X)(q21.2), del(X)(q21.31) and del(X)(q22.33). Microarray CGH showed that the del(X)(q21.31) was also associated with a Xpter duplication including the SHOX gene. In these patients with POF, deletions or duplications of autosomes have been excluded. CONCLUSION This study is the first one using microarray in patients with POF. It demonstrates that putative X chromosome deletions can be associated with other chromosomal imbalances such as duplications, and therefore illustrates the use of microarray CGH to screen chromosomal abnormalities in patients with POF. [ABSTRACT FROM AUTHOR]

Published
2008

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